Medical & Molecular Genetics

By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help with understanding a wide range of genetic disorders.

Summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. Clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics.

Genomic information is impacting clinical decision-making and leading to more personalization of health care. The book pinpoints the challenges, barriers, and solutions that have been brought forward to enable translation of genome based technologies into health care.

Presents a comprehensive volume for primary care providers. Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine.

Addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.

Timely ethical issues arising in the genetics clinic and laboratory, including prenatal and pre-implantation genetic diagnosis, assisted reproductive technologies, incidental findings in genetic testing, gene patenting, testing children for adult onset disorders, and direct to consumer testing.

Guidance to accurately diagnose multiple malformation syndromes of environmental and genetic etiology, as well as recognizable disorders of unknown cause. Helps establish prognoses, and provide appropriate management and genetic counseling.

Combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. Provides information to help concerned parents accommodate and adapt to their particular chromosomal challenges, and to determine what may be their best course of action.

Important scientific discoveries and complex ever-changing data on how to identify and manage patients with hereditary risk for cancer.

Comprehensive review of human development. Nearly 600 illustrations help provide a clinically oriented guide to human development, utilizing a week-by-week and stage-by-stage approach to describe fetal organ and system development.

Outlines the embryologic origins of normal and abnormal physical development, describes the major and minor structural anomalies in each of 20 anatomic regions, and teaches techniques of observation and synthesis useful in dysmorphologic diagnosis.

Timely ethical issues arising in the genetics clinic and laboratory, including prenatal and pre-implantation genetic diagnosis, assisted reproductive technologies, incidental findings in genetic testing, gene patenting, testing children for adult onset disorders, and direct to consumer testing.

LIMITED TO 3 CONCURRENT USERS. TO MAXIMIZE USE, PLEASE DOWNLOAD THE PDF OF THE CHAPTER NEEDED AND READ IT OFFLINE. A guide for students who are learning how to evaluate reports of empirical research published in academic journals.

The why's and how's of assisting clients with complex genetic issues.

An introduction to the concepts and skills in genetic counseling with clients before and during pregnancy.

Helps develop the ability to gather relevant data and interpret it for patients. Aids in understanding patient situations, incorporating patient values into clinical practice, providing in-depth support, and facilitating thoroughly informed, autonomous decisions.

Devoted to research methodology in genetic counseling, this text offers step-by-step guidance for conducting research, from the development of a question to the publication of findings.

Overview of genetic counseling, focusing on the components, theoretical framework, and patient care. The book defines the core competencies and covers the genetic counseling process from case initiation to completion.

Shows how to take a medical-family history and record a pedigree, and diagnose conditions with a genetic component. Aids in recommending genetic testing and genetic counseling, determining patterns of inheritance, calculating risk of disease, and informing and educating patients.

Descriptions of the basic concepts and interpretations involved in chromosome analysis. Provides a clear understanding of what happens in the cytogenetics laboratory to facilitate accurate and timely diagnoses.

Guidance to accurately diagnose multiple malformation syndromes of environmental and genetic etiology, as well as recognizable disorders of unknown cause. Helps establish prognoses, and provide appropriate management and genetic counseling.